title: Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child.
abstract: Ectrodactyly-ectodermal dysplasia-clefting syndrome, the result of a mutation in the gene encoding tumor protein p63, causes ocular surface disease. It is typically progressive, with vision loss in adulthood. We present a case of severe corneal disease, glaucoma, and blindness related to ectrodactyly-ectodermal dysplasia-clefting syndrome in a 3-year-old female patient.
authors.affiliation: Department of Ophthalmology, Montefiore Medical Center, Bronx, New York 10467, USA. Jamiebella78@gmail.com
authors.forename: Jamie B
authors.initials: JB
authors.lastname: Rosenberg
authors.forename: Salim
authors.initials: S
authors.lastname: Butrus
authors.forename: Marlet G
authors.initials: MG
authors.lastname: Bazemore
mesh_terms: D001766:Blindness / Q000209:etiology*; D002675:Child, Preschool; D002924:Ciliary Body / Q000601:surgery; D002971:Cleft Lip / Q000150:complications / Q000175:diagnosis; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis; D003316:Corneal Diseases / Q000209:etiology; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis; D005260:Female; D005901:Glaucoma / Q000188:drug therapy / Q000209:etiology / Q000601:surgery; D006801:Humans; D007429:Intraocular Pressure; D017075:Laser Coagulation